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Q8NBL1 (PGLT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein O-glucosyltransferase 1

EC=2.4.1.-
Alternative name(s):
CAP10-like 46 kDa protein
Short name=hCLP46
KTEL motif-containing protein 1
Myelodysplastic syndromes relative protein
O-glucosyltransferase Rumi homolog
Short name=hRumi
Protein O-xylosyltransferase
EC=2.4.2.26
Gene names
Name:POGLUT1
Synonyms:C3orf9, CLP46, KTELC1, MDSRP
ORF Names:MDS010, UNQ490/PRO1006
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length392 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Dual specificity glycosyltransferase. Catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to EGF repeats, such as those found in F7, F9 and NOTCH2, on the consensus sequence C-X-S-X-P-C. Positively regulates Notch signaling without affecting Notch ligand binding. Ref.10 Ref.11 Ref.12

Catalytic activity

Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptor protein substrate.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Endoplasmic reticulum lumen Ref.1 Ref.13.

Tissue specificity

Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. Expressed in the epidermis, especially in the upper parts, stratum spinosum and stratum granulosum (at protein level). Ref.1 Ref.13

Involvement in disease

Dowling-Degos disease 4 (DDD4) [MIM:615696]: A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13

Sequence similarities

Belongs to the glycosyltransferase 90 family.

Biophysicochemical properties

Kinetic parameters:

KM=72 µM for UDP-Glc Ref.11

Vmax=7.6 pmol/min/µg enzyme

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Ref.9
Chain24 – 392369Protein O-glucosyltransferase 1
PRO_0000246685

Regions

Motif389 – 3924Endoplasmic reticulum retention signal By similarity

Amino acid modifications

Glycosylation401N-linked (GlcNAc...) Potential
Glycosylation531N-linked (GlcNAc...) Potential
Glycosylation2041N-linked (GlcNAc...) Potential
Glycosylation3731N-linked (GlcNAc...) Potential

Natural variations

Natural variant751K → R. Ref.8
Corresponds to variant rs11556605 [ dbSNP | Ensembl ].
VAR_027041
Natural variant2291P → T. Ref.8
Corresponds to variant rs17852785 [ dbSNP | Ensembl ].
VAR_027042

Experimental info

Mutagenesis1691G → E: Loss of O-glucosyltransferase activity. Ref.10
Sequence conflict2871G → D in BAD96657. Ref.5
Sequence conflict3711S → P in BAD96657. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q8NBL1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 25B0370757A6B224

FASTA39246,189
        10         20         30         40         50         60 
MEWWASSPLR LWLLLFLLPS AQGRQKESGS KWKVFIDQIN RSLENYEPCS SQNCSCYHGV 

        70         80         90        100        110        120 
IEEDLTPFRG GISRKMMAEV VRRKLGTHYQ ITKNRLYREN DCMFPSRCSG VEHFILEVIG 

       130        140        150        160        170        180 
RLPDMEMVIN VRDYPQVPKW MEPAIPVFSF SKTSEYHDIM YPAWTFWEGG PAVWPIYPTG 

       190        200        210        220        230        240 
LGRWDLFRED LVRSAAQWPW KKKNSTAYFR GSRTSPERDP LILLSRKNPK LVDAEYTKNQ 

       250        260        270        280        290        300 
AWKSMKDTLG KPAAKDVHLV DHCKYKYLFN FRGVAASFRF KHLFLCGSLV FHVGDEWLEF 

       310        320        330        340        350        360 
FYPQLKPWVH YIPVKTDLSN VQELLQFVKA NDDVAQEIAE RGSQFIRNHL QMDDITCYWE 

       370        380        390 
NLLSEYSKFL SYNVTRRKGY DQIIPKMLKT EL 

« Hide

References

« Hide 'large scale' references
[1]"Cloning, expression and characterization of a novel human CAP10-like gene hCLP46 from CD34+ stem/progenitor cells."
Teng Y., Liu Q., Ma J., Liu F., Han Z., Wang Y., Wang W.
Gene 371:7-15(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
Tissue: Hematopoietic stem cell.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[5]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ARG-75 AND THR-229.
Tissue: Fetal brain and Hypothalamus.
[9]"Signal peptide prediction based on analysis of experimentally verified cleavage sites."
Zhang Z., Henzel W.J.
Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 24-38.
[10]"Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi."
Fernandez-Valdivia R., Takeuchi H., Samarghandi A., Lopez M., Leonardi J., Haltiwanger R.S., Jafar-Nejad H.
Development 138:1925-1934(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, MUTAGENESIS OF GLY-169.
[11]"Universal phosphatase-coupled glycosyltransferase assay."
Wu Z.L., Ethen C.M., Prather B., Machacek M., Jiang W.
Glycobiology 21:727-733(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES.
[12]"Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase."
Takeuchi H., Fernandez-Valdivia R.C., Caswell D.S., Nita-Lazar A., Rana N.A., Garner T.P., Weldeghiorghis T.K., Macnaughtan M.A., Jafar-Nejad H., Haltiwanger R.S.
Proc. Natl. Acad. Sci. U.S.A. 108:16600-16605(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[13]"Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease."
Basmanav F.B., Oprisoreanu A.M., Pasternack S.M., Thiele H., Fritz G., Wenzel J., Grosser L., Wehner M., Wolf S., Fagerberg C., Bygum A., Altmuller J., Rutten A., Parmentier L., El Shabrawi-Caelen L., Hafner C., Nurnberg P., Kruse R. expand/collapse author list , Schoch S., Hanneken S., Betz R.C.
Am. J. Hum. Genet. 94:135-143(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN DDD4, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY298903 mRNA. Translation: AAP56253.1.
AY358581 mRNA. Translation: AAQ88944.1.
AK075444 mRNA. Translation: BAC11625.1.
AK222937 mRNA. Translation: BAD96657.1.
AK315367 mRNA. Translation: BAG37760.1.
AC074271 Genomic DNA. No translation available.
AC073352 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79570.1.
BC030614 mRNA. Translation: AAH30614.1.
BC048810 mRNA. Translation: AAH48810.1.
CCDSCCDS2988.1.
RefSeqNP_689518.1. NM_152305.2.
UniGeneHs.231750.

3D structure databases

ProteinModelPortalQ8NBL1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121300. 3 interactions.

Protein family/group databases

CAZyGT90. Glycosyltransferase Family 90.

PTM databases

PhosphoSiteQ8NBL1.

Polymorphism databases

DMDM74730148.

Proteomic databases

MaxQBQ8NBL1.
PaxDbQ8NBL1.
PRIDEQ8NBL1.

Protocols and materials databases

DNASU56983.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295588; ENSP00000295588; ENSG00000163389.
GeneID56983.
KEGGhsa:56983.
UCSCuc003ecm.3. human.

Organism-specific databases

CTD56983.
GeneCardsGC03P119188.
HGNCHGNC:22954. POGLUT1.
HPAHPA037855.
MIM615618. gene.
615696. phenotype.
neXtProtNX_Q8NBL1.
Orphanet79145. Dowling-Degos disease.
PharmGKBPA162393771.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG248922.
HOVERGENHBG069044.
InParanoidQ8NBL1.
KOK13667.
OMAWEEREPY.
OrthoDBEOG7R831J.
PhylomeDBQ8NBL1.
TreeFamTF323280.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ8NBL1.
BgeeQ8NBL1.
CleanExHS_KTELC1.
GenevestigatorQ8NBL1.

Family and domain databases

InterProIPR006598. LipoPS_modifying.
[Graphical view]
PfamPF05686. Glyco_transf_90. 1 hit.
[Graphical view]
SMARTSM00672. CAP10. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi56983.
NextBio62657.
PROQ8NBL1.
SOURCESearch...

Entry information

Entry namePGLT1_HUMAN
AccessionPrimary (citable) accession number: Q8NBL1
Secondary accession number(s): B2RD13, Q53GJ4, Q8N2T1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 107 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM